Dysplasia Epiphysealis Hemimelica / Trevor Disease synonyms

Dysplasia Epiphysealis Hemimelica / Trevor Disease

Dysplasia Epiphysealis Hemimelica (DEH), also known as Trevor Disease, is a rare developmental disorder that affects the growth plates in the bones of children. It is characterized by an abnormal overgrowth of cartilage on one side of the affected bone, leading to various skeletal abnormalities.

The exact cause of DEH is still unknown, but it is believed to be a result of a genetic mutation that affects the regulation of bone growth. The condition typically presents in early childhood and primarily affects the lower extremities, such as the knee, ankle, or foot.

DEH is often diagnosed based on clinical examination, medical history, and imaging studies such as X-rays or MRI scans. The affected bone may show irregular growth, bone deformities, or joint abnormalities. The condition can be unilateral (affecting only one side) or bilateral (affecting both sides).

Symptoms

The symptoms of DEH can vary depending on the location and severity of the bone involvement. Common symptoms include:

• Pain and swelling in the affected joint


• Limited range of motion


• Joint stiffness


• Uneven limb length


• Visible deformities

Treatment

There is no cure for DEH, and treatment aims to manage symptoms and prevent complications. The approach may involve:

• Regular monitoring of the condition through imaging studies


• Pain management with nonsteroidal anti-inflammatory drugs (NSAIDs)


• Physical therapy to improve joint mobility and strength


• In severe cases, surgical intervention may be necessary to correct bone deformities or address functional limitations.

Prognosis

The prognosis for individuals with DEH varies depending on the extent of bone involvement and the effectiveness of treatment. Some cases may stabilize or improve over time, while others may continue to experience symptoms and require ongoing management. Regular follow-up with a healthcare professional specializing in orthopedics is essential to monitor the progression of the disease and adjust treatment as needed.